ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)

dbSNP: rs3804506
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177299 SCV000229144 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000177299 SCV000240917 benign not specified 2015-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438446 SCV000510600 likely benign not provided 2016-12-09 criteria provided, single submitter clinical testing Converted during submission from Likely Benign to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765095 SCV000562684 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927641 SCV004741474 benign EFHC1-related disorder 2019-10-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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